Beta-Thalassemia Intermedia in Disguise: A Case of Delayed Diagnosis in a Child with Persistent Cytopenias

Aplastic anemia and thalassemia are two distinct hematological disorders that are rarely seen in combination. This report describes the case of a 7-year-old boy initially diagnosed with aplastic anemia based on clinical and bone marrow findings, who was later found to have coexistent beta-thalassemia intermedia. The patient presented with chronic pallor, fatigue, gum bleeding, and growth retardation, along with persistent thrombocytopenia since age two. Despite multiple platelet transfusions, steroids, and splenectomy, there was no sustained improvement. Subsequent marrow biopsy confirmed aplastic anemia, and treatment with oxymetholone and cyclosporine was initiated. Persistent anemia led to hemoglobin electrophoresis, revealing elevated HbF (24.3%) and confirming beta-thalassemia intermedia. After treatment with thalidomide and hydroxyurea, his transfusion requirements markedly decreased, with the last transfusion in March 2024. This case underscores the diagnostic complexity of overlapping hematologic disorders, particularly in regions with high thalassemia prevalence. Early utilization of hemoglobin electrophoresis in unexplained or refractory cytopenias can help avoid misdiagnosis and guide timely, effective treatment.